I84V (p.Ile84Val) variant of SLC19A3 (Thiamine transporter 2)
I84V (p.Ile84Val) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I84V (p.Ile84Val) variant details
- p.Ile84Val
- gnomAD rs1301426956
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.05
- PolyPhen-2 0.17
- SIFT 0.69
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available